Varaico: Literature-Extracted Genetic Variants

Gene:APAF1
Variant:p.P335R
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APAF1

NM_181861.2:p.P335R

Associated Papers

Association between rare variants in specific functional pathways and human neural tube defects multiple subphenotypes.

Zou J et al.

Neural Development, 2020

Rare mutations in apoptosis related genes APAF1, CASP9, and CASP3 contribute to human neural tube defects.

Zhou X et al.

Cell Death & Disease, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."